Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198003 | SCV001368788 | uncertain significance | Developmental and epileptic encephalopathy, 54 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP4. |